Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinism

European Journal of Pediatrics

Volumn 164, Issue 3, 2005, Pages 177-179

  Ikinciogullari, Aydan ^a,d   Tekin, Mustafa ^a   Dogu, Figen ^a   Reisli, Ismail ^a   Tanir, Gonul ^b   Yi, Zanhua ^c   Garrison, Nanibaa ^c   Brilliant, Murray H ^c   Babacan, Emel ^a  

^a ANKARA UNIVERSITY   (Turkey)

^b DR SAMI ULUS CHILDREN S HOSPITAL   (Turkey)

^c UNIVERSITY OF ARIZONA   (United States)

^d NONE   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; COMPLEMENT COMPONENT C6;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; COMPLEMENT DEFICIENCY; CONSANGUINEOUS MARRIAGE; EPIDEMIC MENINGITIS; EXON; FEMALE; HOMOZYGOSITY; HUMAN; MALE; MEDICAL EXAMINATION; OCULOCUTANEOUS ALBINISM; PATIENT REFERRAL; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SERODIAGNOSIS; STOP CODON;

ALBINISM, OCULOCUTANEOUS; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; COMPLEMENT C6; CONSANGUINITY; CRYSTALLINS; EXONS; HOMOZYGOTE; HUMANS; MALE; MEMBRANE PROTEINS; MENINGITIS, MENINGOCOCCAL; NEISSERIA MENINGITIDIS; SEQUENCE DELETION; SIBLINGS;

EID: 17644387204     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-004-1582-y     Document Type: Article

References (3)

1. Hobart MJ, Fernie BA, DiScipio RG (1993) Structure of the human C6 gene. Biochemistry 32: 6198-6205
2. Hobart MJ, Fernie BA, Fijen KAPMJ, Orren A (1998) The molecular basis of C6 deficiency in the Western Cape, South Africa. Hum Genet 103: 506-512
3. Newton JM, Cohen-Barak O, Hagiwara N, Gardner JM, Davisson MT, King RA, Brilliant MH (2001) Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. Am J Hum Genet 69: 981-988